AI Medical Compendium Topic:
Genomics

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Towards the genomic sequence code of DNA fragility for machine learning.

Nucleic acids research
Genomic DNA breakages and the subsequent insertion and deletion mutations are important contributors to genome instability and linked diseases. Unlike the research in point mutations, the relationship between DNA sequence context and the propensity f...

Inferring tumor purity using multi-omics data based on a uniform machine learning framework MoTP.

Briefings in bioinformatics
Existing algorithms for assessing tumor purity are limited to a single omics data, such as gene expression, somatic copy number variations, somatic mutations, and DNA methylation. Here we proposed the machine learning Multi-omics Tumor Purity predict...

Multi-view multi-level contrastive graph convolutional network for cancer subtyping on multi-omics data.

Briefings in bioinformatics
Cancer is a highly diverse group of diseases, and each type of cancer can be further divided into various subtypes according to specific characteristics, cellular origins, and molecular markers. Subtyping helps in tailoring treatment and prognosis ac...

A review of deep learning models for the prediction of chromatin interactions with DNA and epigenomic profiles.

Briefings in bioinformatics
Advances in three-dimensional (3D) genomics have revealed the spatial characteristics of chromatin interactions in gene expression regulation, which is crucial for understanding molecular mechanisms in biological processes. High-throughput technologi...

AutoXAI4Omics: an automated explainable AI tool for omics and tabular data.

Briefings in bioinformatics
Machine learning (ML) methods offer opportunities for gaining insights into the intricate workings of complex biological systems, and their applications are increasingly prominent in the analysis of omics data to facilitate tasks, such as the identif...

Sub-sampling graph neural networks for genomic prediction of quantitative phenotypes.

G3 (Bethesda, Md.)
In genomics, use of deep learning (DL) is rapidly growing and DL has successfully demonstrated its ability to uncover complex relationships in large biological and biomedical data sets. With the development of high-throughput sequencing techniques, g...

Sequence-Based Machine Learning Reveals 3D Genome Differences between Bonobos and Chimpanzees.

Genome biology and evolution
The 3D structure of the genome is an important mediator of gene expression. As phenotypic divergence is largely driven by gene regulatory variation, comparing genome 3D contacts across species can further understanding of the molecular basis of speci...

A comprehensive review of machine learning techniques for multi-omics data integration: challenges and applications in precision oncology.

Briefings in functional genomics
Multi-omics data play a crucial role in precision medicine, mainly to understand the diverse biological interaction between different omics. Machine learning approaches have been extensively employed in this context over the years. This review aims t...

A systematic analyses of different bioinformatics pipelines for genomic data and its impact on deep learning models for chromatin loop prediction.

Briefings in functional genomics
Genomic data analysis has witnessed a surge in complexity and volume, primarily driven by the advent of high-throughput technologies. In particular, studying chromatin loops and structures has become pivotal in understanding gene regulation and genom...

Progress on deep learning in genomics.

Yi chuan = Hereditas
With the rapid growth of data driven by high-throughput sequencing technologies, genomics has entered an era characterized by big data, which presents significant challenges for traditional bioinformatics methods in handling complex data patterns. At...